ADAMTSL3 (ADAMTS like 3)

2007-04-01  

Identity

HGNC
ADAMTSL3
LOCATION
15q25.2
LOCUSID
57188
ALIAS
ADAMTSL-3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57188
MIM: 609199
HGNC: 14633
Ensembl: ENSG00000156218

Variants:

dbSNP: 57188
ClinVar: 57188
TCGA: ENSG00000156218
COSMIC: ADAMTSL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156218ENST00000286744P82987
ENSG00000156218ENST00000567476P82987

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
322665372020Genome-wide CRISPR knockout screens identify ADAMTSL3 and PTEN genes as suppressors of HCC proliferation and metastasis, respectively.13
322665372020Genome-wide CRISPR knockout screens identify ADAMTSL3 and PTEN genes as suppressors of HCC proliferation and metastasis, respectively.13
291625152018Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.4
291625152018Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.4
247933372014Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.8
247933372014Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.8
212391442011ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation.22
212391442011ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation.22
203977482010Genome-wide association study of height and body mass index in Australian twin families.34
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
203977482010Genome-wide association study of height and body mass index in Australian twin families.34
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.62
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.62
183919522008Genome-wide association analysis identifies 20 loci that influence adult height.372

Citation

Dessen P

ADAMTSL3 (ADAMTS like 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47149/haematological-explorer/case-report-explorer/js/web-card-_common.js